Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
Ars, E, Kruyer, H, Morell, M, Pros, E, Serra, E, Ravella, A, Estivill, X, Lázaro, C
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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Fragile X syndrome and the (CGG)n mutation : two families with discordant MZ twins
KRUYER, H, MILA, M, GLOVER, G, CARBONELL, P, BALLESTA, F, ESTIVILL, X
Published in American journal of human genetics (01.03.1994)
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Published in American journal of human genetics (01.03.1994)
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A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands
Estivill, X, Farrall, M, Scambler, P J, Bell, G M, Hawley, K M, Lench, N J, Bates, G P, Kruyer, H C, Frederick, P A, Stanier, P
Published in Nature (London) (30.04.1987)
Published in Nature (London) (30.04.1987)
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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
ARS, E, SERRA, E, GARCIA, J, KRUYER, H, GAONA, A, LAZARO, C, ESTIVILL, X
Published in Human molecular genetics (22.01.2000)
Published in Human molecular genetics (22.01.2000)
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Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families
Milà, M, Kruyer, H, Glover, G, Sánchez, A, Carbonell, P, Castellví-Bell, S, Volpini, V, Rossell, J, Gabarrón, J, López, I
Published in Human genetics (01.10.1994)
Published in Human genetics (01.10.1994)
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Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene
LATHROP, G. M, FARRALL, M, VANDE WOUDE, G, LALOUEL, J.-M, WILLIAMSON, R, WHITE, R, O'CONNELL, P, WAINWRIGHT, B, LEPPERT, M, NAKAMURA, Y, LENCH, N, KRUYER, H, DEAN, M, PARK, M
Published in American journal of human genetics (1988)
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Published in American journal of human genetics (1988)
Journal Article
Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene
Bosch, A, Kruyer, H, Nunes Martínez, Virginia, Estivill, Xavier, 1955
Published in Nucleic acids research (11.04.1991)
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Published in Nucleic acids research (11.04.1991)
Journal Article
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas
SERRA, E, PUIG, S, OTERO, D, GAONA, A, KRUYER, H, ARS, E, ESTIVILL, X, LAZARO, C
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis
Ramsay, M., Wainwright, B.J., Farrall, M., Estivill, X., Sutherland, H., Ho, M.-F., Davies, R., Halford, S., Tata, F., Wicking, C., Lench, N., Bauer, I., Ferec, C., Farndon, P., Kruyer, H., Stanier, P., Williamson, R., Scambler, P.J.
Published in Genomics (San Diego, Calif.) (1990)
Published in Genomics (San Diego, Calif.) (1990)
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Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met pJ3.11
FARRALL, M, WATSON, E, LISSENS, W, SIMON, P, SCAMBLER, P, STANIER, P, VASSART, G, WORRALL, C, WILLIAMSON, R, WAINWRIGHT, B. J, BATES, G, BELL, G, BELL, J, DAVIES, K. A, ESTIVILL, X, KRUYER, H, LAW, H.-Y, LENCH, N
Published in American journal of human genetics (01.12.1986)
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Published in American journal of human genetics (01.12.1986)
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A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers
Wainwright, B, Lench, N, Davies, K, Scambler, P, Kruyer, H, Williamson, R, Jahnsen, T, Farrall, M
Published in Cytogenetics and cell genetics (01.01.1987)
Published in Cytogenetics and cell genetics (01.01.1987)
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First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene
Domènech, Enric, Kruyer, Helena, Gómez, Carolina, Calvo, Maria Teresa, Nunes, Virginia
Published in Prenatal diagnosis (01.10.2004)
Published in Prenatal diagnosis (01.10.2004)
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The application of molecular genetics to the study of the basic defect causing cystic fibrosis
Estivill, X, Bates, G, Bell, G, Farrall, M, Frederick, P, Hawley, K, Kruyer, H, Lench, N, Scrambler, P, Stanier, P
Published in Progress in clinical and biological research (1987)
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Published in Progress in clinical and biological research (1987)
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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
Lázaro, C, Gaona, A, Ainsworth, P, Tenconi, R, Vidaud, D, Kruyer, H, Ars, E, Volpini, V, Estivill, X
Published in Human genetics (01.12.1996)
Published in Human genetics (01.12.1996)
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A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene
Ars, Elisabet, Kruyer, Helena, Gaona, Antonia, Casquero, Pilar, Rosell, Jordi, Volpini, Víctor, Serra, Eduard, Lázaro, Conxi, Estivill, Xavier
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene
Tata, Frederick, Stanier, Philip, Wicking, Carol, Halford, Stephanie, Kruyer, Helena, Lench, Nicholas J., Scambler, Peter J., Hansen, Connie, Braman, Jeffrey C., Williamson, Robert, Wainwright, Brandon J.
Published in Genomics (San Diego, Calif.) (01.06.1991)
Published in Genomics (San Diego, Calif.) (01.06.1991)
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